Varaico: Literature-Extracted Genetic Variants

Gene:ADRA2C
Variant:p.S245C

ADRA2C

110 papers

RefSeq Summary

Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role i...

Pfam Domains

7tm_1aa 68–437UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

adrenoceptor alpha 2C

HGNC Previous Symbols

ADRA2L2; ADRA2RL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000683.4
p.S245C
c.733A>T
Surrounding Variants
1 paper
NM_000683.4
p.G252C
c.754G>T
1 paper
NM_000683.4
p.G255S
c.763G>A
1 paper
NM_000683.4
p.Y234F
c.701A>T
1 paper
NM_000683.4
p.S257P
c.769T>C
1 paper
NM_000683.4
p.R232R
c.696C>G
1 paper
NM_000683.4
p.N262K
c.786C>A
1 paper
NM_000683.4
p.N262K
c.786C>G
1 paper
NM_000683.4
p.H275H
c.825C>T
1 paper
NM_000683.4
p.S213S
c.639C>T
1 paper
NM_000683.4
p.A277V
c.830C>T
1 paper
NM_000683.4
p.D206A
c.617A>C
1 paper
NM_000683.4
p.G203S
c.607G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."